Publications:

Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: MTHFR: 1752+79G>A; rs55686944

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2
• CNR2-4-e1335-s003.xlsx, sheet 1

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A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports

Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D

Publication Date: 2019-12-27

Variant appearance in text: rs55686944

PubMed Link: 31882953

Variant Present in the following documents:

• 41598_2019_56494_MOESM1_ESM.pdf

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs55686944

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs55686944

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Aneji, Chiamaka N CN; Northrup, Hope H; Au, Kit Sing KS

Publication Date: 2012-02

Variant appearance in text: rs55686944

PubMed Link: 22241680

Variant Present in the following documents:

• Main text

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